| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.151640012A>G | CA154047 | NEB | c.8734T>C (p.Ser2912Pro) c.8005T>C (p.Ser2669Pro) c.7701+4061T>C (n.7701+4061T>C) c.6807+15258T>C (n.6807+15258T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151640012A>C | CA348809544 | NEB | c.8734T>G (p.Ser2912Ala) c.8005T>G (p.Ser2669Ala) c.7701+4061T>G (n.7701+4061T>G) c.6807+15258T>G (n.6807+15258T>G) | dbSNP |